Congenital Heart Disease

Question 1

What are the examination features of ASD?

Answer 1

Recurrent chest infections
Arrhythmia as an adult (4th decade onwards)

• Ejection systolic murmur
• Upper left sternal edge
• Fixed and widely split S2

Question 2

What are the investigation findings in ASD?

Answer 2

ECG

• Superior QRS (negative in AVF)
• Right axis deviation
• RBBB (may be normal in kids)

CXR

• Cardiomegaly
• Enlarged pulmonary arteries
• Increased pulmonary vascular markings

Question 3

RBBB findings

Answer 3

Broad QRS > 120 ms
RSR’ pattern in V1-3 (‘M-shaped’ QRS complex)
Wide, slurred S wave in the lateral leads (I, aVL, V5-6)

Question 4

Name the left to right shunts (Breathless)

Answer 4

ASD
VSD
PDA (as systemic pressures always > pulmonary in systole and diastole), Pulse pressure increased, collapsing or bounding pulse

Question 5

What makes VSD large or small?

Answer 5

Relation to size of aortic valve diameter

Question 6

Examination findings in small VSD

Answer 6

Pansystolic murmur at lower left sternal edge
Soft S2

Smaller VSD = Louder murmur

Question 7

Investigation findings in small VSD

Answer 7

Normal CXR, ECG

Question 8

Management small VSD

Answer 8

Watch and wait
Usually close spontaneously
Maintain good dental hygiene

Question 9

Treatments of ASD/ AVSD

Answer 9

ASD significant enough to cause RV dilation will need closing with cardiac catheter and occlusion device

Partial AVSD will need surgical correction
Usually 3-5 years of age
Prevents arrhythmias/ failure later in life

Question 10

Large VSD examination findings

Answer 10

Heart failure with breathlessness and faltering growth
Recurrent chest infections

Active percordium
Soft pansystolic mumur or no murmur
Apical mid-diastolic murmur
Loud P2 (soft P2 in small VSD)

Question 11

Large VSD investigation findings

Answer 11

CXR - cardiomegaly, pulmonary oedema, increased vascular markings

ECG - bi-ventricular hypertrophy by 2 months

Question 12

Large VSD management

Answer 12

Diuretics and Captopril to manage failure
Dietetics - increase calories

Surgery at 3-6 months of age

Question 13

What are the signs of bi-ventricular hypertrophy on ECG and in which condition would you expect to see it?

Answer 13

Katz-Wachtel phenomenon: Tall diphasic QRS complexes (>50 mm in height) in the mid-precordial leads (leads V2, V3 or V4) typically associated with Biventricular Hypertrophy.

Seen in large VSD

Question 14

What is the MOA and SE of Captopril?

Answer 14

ACE inhibitor
Suppresses RAAS
Reduced effect aldosterone
(Normally salt and water retention, loss of K)
(ACE - salt/ water loss, retention of K - hyperK)

SE - dry cough, GI upset, pruritis, taste impairment, hypotension

Question 15

Name the right to left shunts (Blue)

Answer 15

Tetralogy of Fallot
Transposition of the great arteries

Presents with cyanosis in first week of life

Question 16

What are the side effects of prostaglandin infusions?

Answer 16

Apnoea, jitteriness, seizures, flushing, vasodilation, hypotension

Question 17

Explain and draw the clinical features of Tetralogy of Fallot

Answer 17

1. Large VSD
2. Overriding aorta
3. (Sub) Pulmonary stenosis (infundibular septum) causing RVO
4. Resulting RVH

Question 18

Presentation of ToF

Answer 18

Antenatally diagnosed often
Murmur in first 2 months of life
May be cyanotic at this point, but tends to develop later
Tet spells (Hypercyanotic spells)

Question 19

What are the findings in ToF?

Answer 19

ECG may be normal, progressing to RVH

CXR
Boot shaped heart (uptilting of apex) due to RVH
Pulmonary artery bay (earlier finding as no RVH yet)

Question 20

Management of ToF

Answer 20

Will need surgical correction, usually 6 months

• Closure of VSD
• Correction right outflow tract obstruction

If very cyanosed, may need holding procedure

• balloon dilatation of right outflow tract
• Modified Blalock Taussig shunt

*shunt between right subclavian artery and pulmonary artery - increases pulmonary blood flow.

Question 21

Management of Tet spell

Answer 21

Squatting
Increases SVR/ Afterload...
Increasing LA/ LV pressures..
Reverses R-L to L-R shunt...
Less cyanosis, increased pulmonary flow

OR

1. Morphine (venodilatation - reduced preload)
2. Propranolol - increases peripheral arterial resistance and reduced the pulmonary stenosis/ infundibular spasm
3. IV fluid bolus
4. Bicarbonate for acidosis/ I&V to reduce metabolic demand

Question 22

Explain TGA

Answer 22

Closed circulations

• Aorta connected to the RV
• Pulmonary artery connected to LV

Deoxygenated blood goes to body
Oxygenated blood to lungs

Requires mixing to be compatible with life

• ASD
• VSD
• PDA

Question 23

Presentation of TGA

Answer 23

Cyanosis is predominant

• Usually day 2 when ducts close
• Usually no murmur, single S2
• May have systolic flow murmur

Question 24

Investigation findings in TGA

Answer 24

CXR
Egg on the side
Narrow mediastinum
Increased pulmonary vascular markings

ECG
Usually normal

Question 25

Management of TGA

Answer 25

Need to improve mixing! - Maintain PDA - Balloon atrial septostomy Definitive - Arterial switch in first few days of life - Coronary arteries to be reconnected to new aorta

Question 26

What are the common mixing defects? | Blue AND breathless

Answer 26

``` Complete AVSD Complex CHD (may be cyanotic/ failure dominant) - Tricuspid atresia*** most common - Double inlet left ventricle - Mitral atresia - Truncus arteriosus - Common arterial trunk ```

Question 27

Draw and explain the features of AVSD

Answer 27

Large 5 leaflet common AV valve | Lower atrial and upper ventricular wall defect

Question 28

Clinical features of AVSD?

Answer 28

``` Presents with cyanosis, heart failure 2-3 weeks of life Pulmonary hypertension Always superior axis on ECG No murmur Most often seen in T21 ```

Question 29

Management of AVSD?

Answer 29

Medically manage heart failure | Surgical correction at 3-6 months of age

Question 30

Draw and explain tricuspid atresia

Answer 30

Issue - nonfunctional and small right ventricle. No tricuspid valve. Flow from RA is through an ASD, then VSD to reach the pulmonary artery. - May have low flow to pulmonary artery - BT shunt - May have high flow to pulmonary artery - PA banding

Question 31

Describe the palliation of tricuspid atresia

Answer 31

Issue - small non-functioning right ventricle relies on ASD/VSD Left ventricle basically has to pump mixed blood to systemic circulation AND pulmonary circulation Initially may have Blalock-Taussig shunt - Subclavian and pulmonary artery - basically bigger PDA - Increases pulmonary flow Then may have 1. Glenn/ Hemi-fontan (6 months) - Connects the SVC to the pulmonary artery 2. Fontan (3-5 years of age) - Connects the IVC to the pulmonary artery End effect - preload pressures drive all of the venous return to the pulmonary circulation passively LEAVING the left ventricle to deal with the systemic circulation

Question 32

What are the outflow tract obstructions in a well child?

Answer 32

These are murmurs in well children therefore usually have no symptoms. They are: Aortic stenosis Pulmonary stenosis Adults type coarctation of the aorta

Question 33

Clinical features and management of AS

Answer 33

Usually well child If severe - reduced exercise tolerance, syncope, chest pain on exertion If critical - would be duct dependent and present as neonate OE: Slow rising pulse, ejection systolic murmur at upper right sternal edge, Apical ejection click, soft A2 THRILL ALWAYS PRESENT ECG: May have LVH OFTEN associated with Coarctation, other valve stenosis - should always be checked. Management depends on symptoms: - Balloon valvotomy (safer children, dangerous neos) - Aortic valve replacement is definitive

Question 34

Clinical features and management of PS

Answer 34

Most asymptomatic May be duct dependent if critical OE: Ejection systolic murmur at left upper sternal edge Thrill may be present. Ejection click. May have heave. ECG may show RVH Managed by balloon dilatation when the pressure across the pulmonary valve becomes critical - about >64 mmHg

Question 35

What are the outflow tract obstructions in the sick infant?

Answer 35

Coarctation of the aorta - most common Interrupted aortic arch Hypoplastic left heart Critical AS

Question 36

Presentation and management of coarctation

Answer 36

Sick, collapsed neonate (but well at birth) Duct dependent Day 2-3 of life Absent femorals Severe metabolic acidosis CXR - cardimegally ECG - normal Prostaglandin to maintain duct. Surgical repair.

Question 37

Presentation and management of hypoplastic left heart syndrome

Answer 37

Sickest of all collapsed neonates Usually diagnosed antenatally All of left heart is small - nonfunctional left ventricle - small or atretic mitral valve - aortic valve atresia - usually associated with coarctation Sick. Metabolic acidosis. No pulses. Management with prostaglandin Surgical correction - Norwood

Question 38

Describe the Norwood procedure and in which condition would it be indicated?

Answer 38

Hypoplastic Left Heart syndrome Step 1: The Norwood procedure - Aorta diverted from LV to RV - Pulmonary artery detached, now pulmonary flow is through a BT shunt attached to the subclavian artery - RV is driving both pulmonary and systemic mixed flow Step 2: Glenn shunt, or semi-fontan - SVC is diverted directly to the pulmonary artery - BT shunt removed Step 3: Fontan - IVC is diverted directly to the pulmonary artery via a conduit. Pulmonary flow is now driven by venous return and preload pressures

Question 39

Presentation and management of interrupted aortic arch

Answer 39

``` Presents as collapsed/ sick neonate Only right brachial pulse palpable Metabolic acidosis Duct dependent VSD usually present ``` Associated with DiGeorge syndrome

Question 40

Cardiac defects and genetics of Williams syndrome?

Answer 40

Deletion in chromosome 7 Supravalvular aortic stenosis Peripheral pulmonary artery stenosis

Question 41

Cardiac defects and genetics of DiGeorge?

Answer 41

22q11.2 Truncus arteriosus Tetralogy of Fallot Aortic arch abnormalities

Question 42

Cardiac defects and genetics of Noonans?

Answer 42

PTPN11 Pulmonary stenosis Hypertrophic cardiomyopathy

Question 43

Genetics and cardiac defects of Turners?

Answer 43

45XO Aortic valve stenosis Coarctation of the aorta